Variant #0000873271 (NC_000015.9:g.31360289G>A, NM_002420.5:c.220C>T (TRPM1))
Individual ID |
00414206 |
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.31360289G>A |
DNA change (hg38) |
g.31068086G>A |
Published as |
TRPM1 c.220C>T [p.R74C] |
ISCN |
- |
DB-ID |
TRPM1_000091 See all 6 reported entries |
Variant remarks |
heterozygous |
Reference |
PubMed: Li 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
3.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-07-27 15:11:06 +02:00 (CEST) |
Date last edited |
2022-07-27 15:11:43 +02:00 (CEST) |

Variant on transcripts
Screenings
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